Advances in the genetic field allowed scientists to identify specific mutations related to the development of BBS and those are BBS1, BBS2, ARL6/BBS3, MKKS/BBS6, BBS7, TTC8/BBS8, B1/BBS9, BBS10, TR1M32/BBS11 genes [1,10,11]. This evidence concerns the gene BBS1 and Bardet-Biedl syndrome.